ESPE Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a disease characterized by a defect in one of steroidogenic enzymes or the gene encoding the transport proteins. Frequency of occurrence is 1: 14000 newborns.

Objective: To determine the age, clinical manifestations, the incidence and the effectiveness of treatment various forms CAH in children.

Materials: Medical History of 35 patients aged from 1 to 16 years diagnosed with CAH in 2003-2018 have been analyzed in the Republican Center for Pediatric Endocrinology.

Findings: Among the 35 patients participating in the study (57% boys, girls 43%) 71.4% is with salt wasting form (SWF), 25.75% with virilising form (VF), 2.85% with non-classical form (NF). In the SWF group boys (64%) predominate over girls (36%), in contrast to the WF group (ude 55.5% girls, 45.5% boys). The mean weight SDS at birth is -0.08 ± 1.17, the mean height SDS is 0,012 ± 1.6. Age of diagnosis SWF is 17,4 ± 16,3 days, VF is 4,03 ± 4,6 years. The most frequent signs of manifestation in SWF were regurgitation (28.6%), body weight loss (22.8%), vomiting (8.6%), dry skin (8.6%), hypotension, exicosis (5.7 %); in VF - premature pubarche (14.3%). At the time of diagnosis, 17-hydroxyprogesterone (17OHP) was higher than normal range in all groups: SWF - 840, 34 ± 298.6 nmol/l, VF - 386, 1 ± 80.9 nmol/l, NF - 35.2 nmol/l; increase morning values of adrenocorticotropic hormone (74, 06 ± 2.05 pg/ml). It was revealed that before treatment there were changes in electrolytes (K, Na) only in group with SWF (6,71 ± 1.6 mmol/l and 125, 6 ± 10.98 mmol/l respectively). Blood glucose and pH in children with SWF were 3,2 ± 1.14 mmol/l and 7, 34 ± 0.067 co-responsibly. All children received hydrocortisone replacement therapy at a starting dose of 63, 7 ± 28.1 mg/m² in SWF group; 21, 84 ± 21.5 mg/m ² in VF group; 21 mg/m ² in NF group. Patients with SWF additionally took fludrocortisone at a starting dose of 787, 3 ± 130.8 mkg/m ². 14 children from the total sample have reached puberty age. Height SDS is -0.4 ± 1.3, weight SDS 1, 13 ± 1.33, BMI 24, 2 ± 3.6 kg/m ², 17OHP - 13, 56 ± 13.47 nmol/l.

Conclusion: Late diagnosis of the disease in patients was revealed regardless of the form of СAH. Metabolic acidosis, hyponatremia and hyperkalemia, high level of 17-ОНP are registered in the SWP group at the time of manifestation There was noted compensation of metabolic parameters, achievement of target growth indices, when children receive adequate replacement hormonal therapy.